About   Help   FAQ
Dync2h1b2b414Clo
Chemically induced Allele Detail
Summary
Symbol: Dync2h1b2b414Clo
Name: dynein cytoplasmic 2 heavy chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
MGI ID: MGI:5311370
Synonyms: Dync2h1p.V234E, Lucifer
Gene: Dync2h1  Location: Chr9:6928550-7177619 bp, - strand  Genetic Position: Chr9, Syntenic
Alliance: Dync2h1b2b414Clo page
Pulmonary atresia with MAPCAs and duplicated IVC.

Show the 26 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 701 in exon 5 of the cDNA (c.701T>A, NM_029851). This changes the valine residue to glutamic acid at position 234 of the encoded protein (p.V234E). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dync2h1b2b414Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 13 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dync2h1 Mutation:  215 strains or lines available
Notes
Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0110 Dextrocardia
1081 Tetralogy of Fallot with pulmonary atresia and mapcas
1120 Complete common atrioventricular canal
1124 Balanced complete atrioventricular canal
1125 Unbalanced complete atrioventricular canal, left dominant
1140 Common atrium
2230 Coronary fistula (arterio-venous or arterio-cameral)
2810 Inferior vena cava anomaly
3100 Congenital coronary anomaly
3804 Congenital heart disease
3986 {A,D,S}
4044 VATERS/VACTERLS Syndrome
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4202 Tracheoesophageal fistula
4232 Airway malformation
4235 Pulmonary malformation
4338 Holoprosencephaly
4503 Agenesis of kidneys
4863 Opthalmic malformation
4874 Mouth malformation

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
All:  3 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory